Showing 1 - 4 results of 4 for search 'Magdalena Badura-Stronka', query time: 0.03s Refine Results
  1. 1
    The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

    The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in... by Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak

    Published 2023-06-01
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  2. 2
    Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

    Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering... by Magdalena Badura-Stronka, Magdalena Badura-Stronka, Katarzyna Wołyńska, Anna Winczewska-Wiktor, Justyna Marcinkowska, Dagmara Karolewska, Danuta Tomkowiak-Kędzia, Michał Piechota, Marta Przyborska, Natalia Kochalska, Barbara Steinborn

    Published 2024-01-01
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  3. 3
    Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

    Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses by Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer

    Published 2020-11-01
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  4. 4
    Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia caused by the SMAD4 gene mutation in a paediatric patient – a case report and a review of the literature

    Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia caused by the SMAD4 gene mutation in a paediatric patient – a case report and a review of the literature by Dominika Kaps-Kopiec, Andrzej Pławski, Magdalena Badura-Stronka, Mikołaj Teisseyre, Maciej Dądalski, Joanna Cielecka-Kuszyk, Joanna Pawłowska

    Published 2021-03-01
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